Genzyme Expands Pompe’s Program

Genzyme, a biotechnology company based in Cambridge, Mass., has expanded its program in acid maltase deficiency (AMD, or Pompe’s disease).

The company’s patented enzyme, Myozyme, is designed to compensate for a deficiency of the acid maltase enzyme in the disease. MDA-supported basic research contributed substantially to the development of Myozyme, which is now being tested in young children in two clinical trials.

In addition to these ongoing trials, the company offers an “expanded access” program to allow infantile-onset and late-onset Pompe’s patients access to Myozyme, if they’re not eligible for the formal clinical trials because of advanced disease or other factors.

The program is now taking applications for enrollment.

In addition, an observational study (not involving any treatment) of late-onset Pompe’s, diagnosed in people age 8 or older, is also open through Genzyme. Some participants in the observational study, to be conducted largely through MDA clinics, will be invited to take part in a later trial of the experimental enzyme.

The company also invites anyone with Pompe’s to enroll in a disease registry that will help investigators study the natural progression of the disorder and design future clinical trials of potential treatments. A doctor has to fill out the registry forms, but families can contact Genzyme to start the process.

For participation criteria for these studies or to learn about receiving Myozyme, go to MDA’s clinical trials listing (www.mda.org/research/ctrials.aspx), or visit Genzyme’s site at www.pompe.com. You can contact Genzyme at (800) 745-4447, (617) 768-9000 or medinfo@genzyme.com.